Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Fancl'

343519

Institutional Source

Beutler Lab

Gene Symbol

Fancl

Ensembl Gene

ENSMUSG00000004018

Gene Name

Fanconi anemia, complementation group L

Synonyms

gcd, 2010322C19Rik, Pog, B230118H11Rik, Phf9

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26337084-26421883 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 26418423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000078362] [ENSMUST00000109504] [ENSMUST00000109509]

AlphaFold

Q9CR14

Predicted Effect

probably null
Transcript: ENSMUST00000004120

SMART Domains

Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018

Domain	Start	End	E-Value	Type
Pfam:WD-3	11	295	1.1e-106	PFAM
FANCL_C	303	371	7.55e-44	SMART
RING	307	362	2.77e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078362

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	298	4.4e-18	PFAM
Pfam:Pkinase_Tyr	29	313	2e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109504

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	302	2.8e-22	PFAM
Pfam:Pkinase_Tyr	29	313	1.3e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109509

SMART Domains

Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018

Domain	Start	End	E-Value	Type
Pfam:WD-3	8	290	2.4e-116	PFAM
FANCL_C	298	366	7.55e-44	SMART
RING	302	357	2.77e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000134445

SMART Domains

Protein: ENSMUSP00000119873
Gene: ENSMUSG00000004018

Domain	Start	End	E-Value	Type
Pfam:WD-3	1	65	2.2e-24	PFAM
Pfam:FANCL_C	73	127	4.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143471

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

MGI Phenotype

FUNCTION: This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Acox3	A	G	5: 35,761,987 (GRCm39)	N444D	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
Gnpat	T	A	8: 125,605,241 (GRCm39)		probably null	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc38a6	G	T	12: 73,335,298 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,025 (GRCm39)	R126Q	probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het
Zfp788	T	G	7: 41,297,018 (GRCm39)	I56S	probably benign	Het

Other mutations in Fancl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Fancl	APN	11	26,420,916 (GRCm39)	missense	probably benign
IGL01940:Fancl	APN	11	26,409,752 (GRCm39)	missense	probably damaging	0.99
IGL02681:Fancl	APN	11	26,418,722 (GRCm39)	splice site	probably null
IGL03063:Fancl	APN	11	26,337,299 (GRCm39)	missense	probably damaging	1.00
R0006:Fancl	UTSW	11	26,419,695 (GRCm39)	missense	possibly damaging	0.46
R0006:Fancl	UTSW	11	26,419,695 (GRCm39)	missense	possibly damaging	0.46
R0218:Fancl	UTSW	11	26,421,337 (GRCm39)	missense	probably benign	0.30
R1016:Fancl	UTSW	11	26,337,195 (GRCm39)	unclassified	probably benign
R1802:Fancl	UTSW	11	26,409,709 (GRCm39)	missense	probably benign	0.01
R2018:Fancl	UTSW	11	26,372,459 (GRCm39)	missense	probably damaging	1.00
R2121:Fancl	UTSW	11	26,409,841 (GRCm39)	splice site	probably benign
R5472:Fancl	UTSW	11	26,419,677 (GRCm39)	missense	probably damaging	1.00
R5495:Fancl	UTSW	11	26,347,801 (GRCm39)	missense	probably damaging	1.00
R6425:Fancl	UTSW	11	26,349,680 (GRCm39)	missense	probably damaging	1.00
R7114:Fancl	UTSW	11	26,357,615 (GRCm39)	missense	probably damaging	1.00
R7139:Fancl	UTSW	11	26,353,358 (GRCm39)	missense	probably benign	0.01
R7302:Fancl	UTSW	11	26,353,363 (GRCm39)	missense	probably damaging	0.98
R7324:Fancl	UTSW	11	26,353,362 (GRCm39)	missense	probably damaging	1.00
R8307:Fancl	UTSW	11	26,349,642 (GRCm39)	splice site	probably benign
R8684:Fancl	UTSW	11	26,420,826 (GRCm39)	missense
R8732:Fancl	UTSW	11	26,419,754 (GRCm39)	missense	probably benign
R9139:Fancl	UTSW	11	26,337,231 (GRCm39)	missense	probably benign	0.45
R9277:Fancl	UTSW	11	26,418,847 (GRCm39)	missense	possibly damaging	0.46
R9568:Fancl	UTSW	11	26,418,672 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAGGTGGCCAGATCAGTGTG -3'
(R):5'- TCCCAGGGGTTTTGTCACTG -3'

Sequencing Primer
(F):5'- GCCAGATCAGTGTGCATGG -3'
(R):5'- TTTTGTAACAGCCACTGCCACAG -3'

Posted On

2015-09-24